闈舵爣锛欬p style="text-indent: 2em;">BBS2

浜у搧鍒悕锛欬p style="text-indent: 2em;">BBS锛 RP74锛 BBS2锛 Bardet-Biedl syndrome 2锛 Bardet-Biedl syndrome 2锛 Bardet-Biedl syndrome 2 protein锛 宸村皵寰?鍒痉灏旂患鍚堝緛鐩稿叧铔嬬櫧2锛

鑳屾櫙淇℃伅锛欬div style="text-indent: 2em;">This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene forms a multiprotein BBSome complex with seven other BBS proteins.[provided by RefSeq, Oct 2014],